The Basics of
What is Epidermolysis Bullosa and what does it mean?
Epidermolysis Bullosa, or EB for short, is the name given to a group of rare genetic blistering skin disorders.
EB causes the skin to be so fragile that even minor rubbing can cause blistering. In severe EB, daily bandage changing is required to treat the many open wounds and blisters. EB can also effect other areas such as the eyes and internally such as the mouth, esophagus, stomach, intestines, upper airway, bladder, and genitals.
The skin is made up of many layers. The outer layer is called the epidermis while the inner layers are called the dermis. Bullosa means blister and lysis mean breakdown. Therefore Epidermolysis Bullosa means the breakdown and blistering of the skin.
How common is Epidermolysis Bullosa?
It is estimated that about 10,000 Americans have some form of EB.
Of these, less than 300 have the same form of EB that I was born with. (Recessive Dystrophic - Hallopeau Siemens Epidermolysis Bullosa.) Only one in a million babies are born with the Recessive Dystrophic form of EB (RDEB). I prefer to say I'm one in a million :o)
EB occurs in all racial and ethnic groups and effects males and females equally.
What causes Epidermolysis Bullosa?
Most people with EB have inherited the condition through genes they have received from one or both parents. The faulty genes cause structural abnormalities in the skin. Genes govern the formation of different types of protein in the skin, including collagen and keratin. When any of these proteins is bad, the skin becomes so fragile it can literally fall apart.
In Recessive Dystrophic EB (the form I have), the type of protein that is defective is Collagen VII, which is the main component for something called anchoring fibrals. Anchoring fibrals are responsible for keeping the epidermis firmly attached to the dermis. In RDEB these fibrals are either absent or do not function. Any part of the body containing Collagen VII can therefor be effected including skin, eyes, mouth, esophagus, stomach, intestines, etc.
Forms and severity of Epidermolysis Bullosa
There are three main forms of EB. They're called Simplex, Junctional and Dystrophic. There are many sub-types within these forms. For example, the form I have is called Recessive Dystrophic Epidermolysis Bullosa and the sub-type is Hallopeau Siemens. This is categorized by the extreme scarring, mittening of the hands, esophageal involvement, anemia etc.
Each form of EB effects a different layer in the skin. With Simplex the blistering occurs at basal cell level or above, with Junctional the blistering is at the lamina lucida level, and with the Dystrophic form the blistering is below the lamina densa level. Here is a chart of the different layers of skin.
How is Epidermolysis Bullosa inherited?
Some forms of EB are dominant, some are recessive and some are spontaneous mutations (abnormal changes in a gene that occurred during the formation of the egg or sperm) In dominant forms of EB, the disease gene is inherited from only one parent who has the disease and there is a 50% chance with each pregnancy the baby will have EB. In the recessive forms, the disease gene is inherited from both parents. Neither parent shows signs of the disease, they are just carriers of the EB gene. There is a 25% chance with each pregnancy that the baby will have EB.
The severity of EB has a wide range. One form goes away after one year of age, others cause death at birth, some only effect the hands and feet while others need lengthy daily bandage changes due to the constant blisters and large burn-like wounds.
RDEB is considered one of the most severe forms. The structural weakness in the skin is in a deeper layer resulting in deep sores and extreme scarring. The skin is so fragile it can blister or sluff off from slight friction resulting in large blisters and wounds all over the body. The blisters need to be cut and drained or else they continue to grow. The sores need antibiotics and constant bandaging. (Please refer to my EB Medical Care web page for more information on caring for an EB patient) Most RDEB patients are practically bandaged head to toe. Many need wheelchairs because walking is too painful and tiring. This is also true with many of the Simplex varieties of EB because they effect the feet so greatly.
When most people hear the word blister they think they know what it's like to have EB, however EB blisters are generally much much larger and often times much more painful. In severe cases the wounds can become extremely large. The scarring is similar to that of a burn victim. Blisters can arise from everyday actions such as scratching an itch, friction from clothing, wearing glasses, bumping into someone etc. There is often spontaneous blistering as well.
Other symptoms of RDEB include:
*Severe scarring causing the fingers to fuse to the palm in the shape of a fist. This is called "webbing". This also effects feet and toes. Webbing can even cause the feet and hands to fuse into a bent position and the inability to stretch the legs and arms completely. Scarring in the esophagus causes it to become very narrow. This is due to the fact that scar tissue does not grow like normal skin. It continues to build up and create stricturing.
*Permanent loss of finger and toe nails at a young age. Blistering under the nails causes them to fall off and scarring causes them to never grow back.
*Severe Itching. When sores heal they tend to itch more. They also itch more if they are infected. With so many sores constantly trying to heal it causes constant itches and tingles. Scratching of course causes a lot more damage to the skin and unfortunately there are not many medicines that reduce the itching without also causing you to be very drowsy.
*Malnutrition. This is caused because of anemia and because most of the nutrients taken into the body goes toward healing the many open wounds and disrupts the growth of organs. It is also believed most RDEB patients can not easily absorb nutrients. It is also hard to eat due to blistering in the esophagus and mouth. This means only soft foods can be eaten. RDEB patients often "choke" because food gets easily caught in their throat. Although RDEB does not effect the airway, so I have never actually had trouble breathing while food is stuck in my throat.
*Severe problems with teeth. I have had to have all my teeth pulled due to severe tooth decay. Oral hygiene in severe forms of EB can be very difficult. Dentures are not an option due to the fragility of the gums.
*Blisters in the eyes and Corneal Abrasions can be extremely painful. I have not had any eye blisters since I was a baby, however my eyes do dry out and get corneal abrasions very easily. This causes scarring over the eye and may impair vision.
*Anemia. Often times RDEB patients have Anemia as a result of inflammation, malnutrition and iron deficiency.
*Squamous Cell Carcinoma, a skin cancer that is fairly common in RDEB patients over the age of 20. If caught early, this cancer can be removed fairly easily, however there are no big signs to warn you. Unfortunately this is what takes many of the lives of RDEB patients.
How is Epidermolysis Bullosa diagnosed?
By doing a skin biopsy (taking a small sample of skin and examining it under a microscope), a dermatologist can identify where the skin separation occurs and what form of EB the person has.
One diagnostic test involves use of a microscope and reflected light to see if proteins needed for forming connecting fibrals, filaments or hemidesmosomes are missing or reduced in number. Another test involves use of a high-power electron microscope, which can greatly magnify tissue images, to identify structural defects in the skin.
Recent techniques make it possible to identify defective genes in EB patients and their family members. Prenatal diagnosis can now be accomplished by amniocentesis (removing and examining a small amount of amniotic fluid surrounding the fetus in the womb of a pregnant women) or sampling the chorionic villus (part of the outer membrane surrounding the fetus) as early as the tenth week of pregnancy.
Can Epidermolysis Bullosa be cured or treated?
There is currently no cure for EB. At this time the best hope is gene therapy. In 1993 the gene that causes Dystrophic EB was located. That was the first major step. More advances are being made every year giving much hope for the future. Scientists are currently testing the delivery of modified cells to genetically altered mice that have EB traits. The goal is to eventually be able to take the cells from a person with EB, correct the faulty gene, grow the new "gene corrected" healthy skin in the lab, and graft it onto the original EB donor.
If you would like to donate money to the EBMRF (Epidermolysis Bullosa Medical Research Foundation) please visit www.ebkids.org
The EBMRF is a volunteer nonprofit foundation dedicated to the support of medical research of Epidermolysis Bullosa (EB), its causes, the development of successful treatments, and ultimately, its cure.
There are currently a few bioengineered skin grafts being used to help treat chronic areas of the skin that keep breaking down. These include:
These however do NOT cure the skin in any way. The skin graphs are used to help speed along the healing process of sores that could otherwise take months are even years to heal. The EB genes take over the skin graphs making them as fragile as the rest of the skin.
Until a cure is found, here is an example of some things EB patients (specifically RDEB) do to manage their condition. (For more detailed information on caring for an EB patient, please visit the Medical Care portion of my website)
*Daily bandage changes which include bathing and cleansing wounds, popping and draining all blisters (or else they continue to grow), applying antibiotics, creams and ointments to wounds, removing dead skin and applying fresh bandages and wrapping them with gauze. This whole process can take several hours.
*Special things can be put into the bath such as bleach to kill infection, or oatmeal to help with itching.
*A high protein, high calorie diet and possibly pureed diet, as many with RDEB have malnutrition and Anemia as well as severe oral and esophageal involvement which may require pureed and soft food.
*Hand and feet operations to release the webbing that is caused from severe scarring
Biopsies and removal of skin cancers. The threat of a skin cancer called Squamous Cell Carcinoma increases with age in RDEB patients.
*Esophageal dilatation to stretch the strictures in the throat caused by scarring.
*Oral surgeries for routine dental care or to pull teeth. I had to have all my teeth pulled as many RDEB patients do.
*Iron supplements or transfusions to help with the Anemia
*Blood transfusions to help with the Anemia
*Epo shots (Procrit) to help with the Anemia
*Periodic antibiotics to fight infection. Wounds can often become infected, in severe cases infection can cause death.
*G-tube placement to help take in supplements for weight gain.
*Lots of hope and laughter! Laughter really is the best medicine!
What is the history of Epidermolysis Bullosa?
In 1886, Kobner introduced the name epidermolysis bullosa hereditaria to describe a multigeneration affected family with mildly generalized, predominantly acral, serous blistering. This name is still widely used today. During the end of the nineteenth and beginning of the twentieth centuries, other famous dermatologists, including Brocq and Hallopeau, continued to group these patients under such terms as congenital traumatic pemphigus, congenital traumatic blistering, or acantholysis bullosa. As early as 1908, however, at least one major dermatology textbook published in English used the term epidermolysis bullosa to describe patients with congenital blistering.
Is Epidermolysis Bullosa contagious?
EB is a genetic disorder and is not at all contagious.
Is Epidermolysis Bullosa lethal?
There are currently only two types of EB that are considered lethal. The first is Junctional Herlitz, which is often deadly to newborns. Junctional Herlitz effects internally, including the airway and other internal organs causing major complications. Many with this form pass away within a few weeks of birth.
The other form is RDEB-HS (the kind I have). Most with RDEB-HS do not live past their 30's due to severe malnutrition (which can cause heart failure), a skin cancer called Squamous Cell Carcinoma and severe infection.
There are also other forms of EB that can be very severe at birth however tend to get better with age.
RDEB is considered to get worse with age however, due to the constant breakdown of the skin and severe scarring.
Where can I go to learn more about Epidermolysis Bullosa?
Here are a few sites with helpful information about EB
Thankyou for taking the time to learn about Epidermolysis Bullosa. Please help spread awareness and pass this site onto others.
More Frequently Asked Questions
Q: Does EB impair intelligence?
A: No, not at all, in fact most with EB excel in school. EB children can be mainstreamed into regular classes with the other kids. Some severe forms of EB cause the person/child to look much younger than they actually are, however don't let this fool you!
Q: Does the skin get better with age?
A: In some forms of EB the skin does get better with age, in some cases dramatically better. However with forms such as RDEB where the scarring is so severe, the condition gets worse with age. The skin becomes weaker and blisters and wounds form even easier. This increases the chance of infection and skin cancer.
Q: Can people with EB go out in the sun?
A: Yes, it is not anymore dangerous to go out in the sun for an EB person than anyone else. They do not sunburn any easier. They can, however overheat easier than most, especially if they're bandaged completely. The scarring from EB also makes it hard to sweat which is your bodies way of cooling itself down.
Q: Why do people with RDEB look so young?
A: In the recessive dystrophic form of EB, it is very hard to gain weight and absorb nutrients. The nutrients that are absorbed go toward healing and not growth. So many have growth retardation and some never go through puberty which causes us to look very young.
Q: Is EB caused by the parent in any way? Can't it be prevented?
A: No, EB is a genetic condition, not a disease and can not be prevented.
Q: Can EB be compared to Eczema or other conditions like that?
A: Not really because EB is more than just sores and red, rashy, itchy skin. It actually produces burn like wounds. People with EB, especially severe forms, are often compared to burn victims.
Q: Aren't there special creams to heal the sores right up?
A: There are some creams, lotions and topical antibiotics that help speed up the healing process, however because this is a genetic condition, the healed skin is still EB skin and can break back open and blister even easier than before. The more an area has been broke open, the weaker the skin becomes. It is an endless cycle. There are good days and bad days. Wounds can become very large and some have skin missing on up to 75% of their bodies.
Q: Why do bleach baths help?
A: Bleach baths kill germs that cause infection. It is extremely important to control infection because it often leads to death, especially in those with severe forms of EB.
Welcome! This page has some basic information about the skin disorder Epidermolysis Bullosa. Because I have the Recessive Dystrophic form of EB, much of this page and my site have specific information about RDEB. For more information on the other forms of EB, please visit my Simplex, Junctional and Dystrophic pages. To see clininal photos of EB wounds and blisters, please click here.